Related Experiment Video
Updated: May 23, 2026
07:20
Inducement and Evaluation of a Murine Model of Experimental Myopia
Published on: January 22, 2019
Endophenotyping reveals differential phenotype-genotype correlations between myopia-associated polymorphisms and eye
Jian Huan Chen1, Haoyu Chen, Shulan Huang
1Joint Shantou International Eye Center, Shantou University & the Chinese University of Hong Kong, Shantou, China.
Molecular Vision
|April 18, 2012
Summary
Genetic variations in gap junction protein delta 2 (GJD2), insulin-like growth factor-1 (IGF1), and hepatocyte growth factor (HGF) genes show specific associations with ocular biometric parameters in Chinese adults. Gene interactions influence axial length and vitreous chamber depth, impacting myopia development.
Area of Science:
- Ophthalmology
- Genetics
- Human Physiology
Background:
- Myopia, a common refractive error, is influenced by genetic and environmental factors.
- Single nucleotide polymorphisms (SNPs) in genes like GJD2, IGF1, and HGF have been implicated in myopia development.
- Understanding the association between these SNPs and ocular biometric parameters is crucial for elucidating myopia etiology.
Purpose of the Study:
- To investigate the association between myopia-associated single nucleotide polymorphisms (SNPs) in GJD2, IGF1, and HGF genes and ocular biometric parameters.
- To analyze these associations in two distinct Chinese cohorts (inland and island dwellers).
- To identify common genetic associations and interactions influencing eye structure.
Main Methods:
- A cohort of 814 Han Chinese individuals (≥50 years) underwent comprehensive ophthalmic examinations.
- Genotyping was performed for three SNPs: GJD2 rs634990, IGF1 rs6214, and HGF rs3735520.
- Genetic association analyses were conducted using linear regression, followed by meta-analysis to identify shared associations.
Main Results:
- GJD2 rs634990 showed no significant association with any biometric parameters.
- The T allele of IGF1 rs6214 was associated with a thicker lens (adjusted p=0.034).
- The A allele of HGF rs3735520 was associated with longer vitreous chamber depth (adjusted p=0.050).
- Significant interactions between HGF rs3735520 and GJD2 rs634990 were observed for axial length and vitreous chamber depth (adjusted p=0.003 and 0.033, respectively).
Conclusions:
- Selected myopia-associated genes exhibit differential associations with ocular biometric parameters in Chinese populations.
- Interactions between HGF and GJD2 genes significantly influence axial length and vitreous chamber depth.
- These findings highlight the complex genetic contributions and interactions in determining eye structure and myopia development.
More Related Videos
Related Concept Videos
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:11Genetic Lingo
Overview
02:27Background and Environment Affect Phenotype
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:27Pharmacogenetics of Drug Metabolism: Overview
Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...